Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315444
rs74315444
IFNGR2
2 1.000 21 33426974 missense variant C/A snv 0.800 1.000 4 2000 2013
dbSNP: rs1196094724
rs1196094724
IFNGR2
1 1.000 21 33426892 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1243506079
rs1243506079
IFNGR2
1 1.000 21 33421613 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs398122890
rs398122890
IFNGR2
1 1.000 21 33421652 inframe insertion -/ACAATG delins 0.700 0
dbSNP: rs587776822
rs587776822
IFNGR2
1 1.000 21 33421549 frameshift variant AG/- delins 0.700 0
dbSNP: rs587776823
rs587776823
TMEM50B ; IFNGR2
1 1.000 21 33432275 inframe deletion TAACATCTTTAGAGTCGGGCATTTAAG/- delins 0.700 0